Linked Data
ClinVar Variation Id:
3044
dbSNP Id:
rs1137887
ExAC:
11:108127067 G / A
gnomAD v2:
11-108127067-G-A
gnomAD v3:
11-108256340-G-A
gnomAD v4:
11-108256340-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108256340G>A , CM000673.2:g.108256340G>A | GRCh38 |
| NC_000011.9:g.108127067G>A , CM000673.1:g.108127067G>A | GRCh37 |
| NC_000011.8:g.107632277G>A | NCBI36 |
| NG_009830.1:g.38509G>A , LRG_135:g.38509G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.2250G>A | ENSP00000388058.2:p.Lys750= | |
| ENST00000713593.1:c.*1721G>A | ENSP00000518889.1:n.*1721G>A | |
| ENST00000278616.9:c.2250G>A | ENSP00000278616.4:p.Lys750= | |
| ENST00000682516.1:n.2384G>A | ||
| ENST00000683174.1:n.2400G>A | ||
| ENST00000683605.1:n.1745G>A | ||
| ENST00000684037.1:c.*1185G>A | ENSP00000508245.1:n.*1185G>A | |
| ENST00000684061.1:n.2384G>A | ||
| ENST00000527805.6:c.2250G>A | ENSP00000435747.2:p.Lys750= | |
| ENST00000675595.1:c.2085G>A | ENSP00000502563.1:p.Lys695= | |
| ENST00000675843.1:c.2250G>A MANE Select | ENSP00000501606.1:p.Lys750= | |
| ENST00000278616.8:c.2250G>A | ENSP00000278616.4:p.Lys750= | |
| ENST00000452508.6:c.2250G>A | ENSP00000388058.2:p.Lys750= | |
| ENST00000527805.5:c.2250G>A | ENSP00000435747.1:p.Lys750= | |
| NM_000051.3:c.2250G>A , LRG_135t1:c.2250G>A | NP_000042.3:p.Lys750= | |
| XM_005271561.3:c.2250G>A | XP_005271618.2:p.Lys750= | |
| XM_005271562.3:c.2250G>A | XP_005271619.2:p.Lys750= | |
| XM_006718843.2:c.2250G>A | XP_006718906.1:p.Lys750= | |
| XM_011542840.1:c.2250G>A | XP_011541142.1:p.Lys750= | |
| XM_011542841.1:c.2250G>A | XP_011541143.1:p.Lys750= | |
| XM_011542842.1:c.2085G>A | XP_011541144.1:p.Lys695= | |
| XM_011542843.1:c.2250G>A | XP_011541145.1:p.Lys750= | |
| XM_011542844.1:c.1206G>A | XP_011541146.1:p.Lys402= | |
| XM_011542845.1:c.942G>A | XP_011541147.1:p.Lys314= | |
| XM_011542846.1:c.2250G>A | XP_011541148.1:p.Lys750= | |
| NM_001351834.1:c.2250G>A | NP_001338763.1:p.Lys750= | |
| XM_005271562.5:c.2250G>A | XP_005271619.2:p.Lys750= | |
| XM_006718843.4:c.2250G>A | XP_006718906.1:p.Lys750= | |
| XM_011542840.3:c.2250G>A | XP_011541142.1:p.Lys750= | |
| XM_011542842.3:c.2085G>A | XP_011541144.1:p.Lys695= | |
| XM_011542843.2:c.2250G>A | XP_011541145.1:p.Lys750= | |
| XM_011542844.3:c.1206G>A | XP_011541146.1:p.Lys402= | |
| XM_011542845.2:c.942G>A | XP_011541147.1:p.Lys314= | |
| XM_017017789.2:c.2250G>A | XP_016873278.1:p.Lys750= | |
| XM_017017790.2:c.2250G>A | XP_016873279.1:p.Lys750= | |
| XM_017017791.1:c.2250G>A | XP_016873280.1:p.Lys750= | |
| XM_017017792.2:c.2250G>A | XP_016873281.1:p.Lys750= | |
| XR_002957150.1:n.2983G>A | ||
| NM_001351834.2:c.2250G>A | NP_001338763.1:p.Lys750= | |
| NM_000051.4:c.2250G>A MANE Select | NP_000042.3:p.Lys750= |